Pfeiffer Syndrome

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Pfeiffer Syndrome is a condition resulting from premature fusion of sutures in the skull (called craniosynostosis). This fusion prevents the skull from growing normally and affects the shape of the head. Pfeiffer Syndrome also affects bones in the hands and feet and is associated with radiohumeral synostosis of the elbow.

Pfeiffer Syndrome is quite rare, affecting 1 in 100,000 individuals. It results from mutations in the FGFR1 and FGFR2 genes. These genes are involved with the development of bone cells during embryonic development. Mutations cause over-signaling which results in premature bone fusion during development. The condition is inherited in an autosomal dominant pattern, which means one allele copy is enough to cause the disorder.

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